Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51806958C>ACA155097SCN8Ac.5472C>A (p.Pro1824=)
c.3536C>A
c.5349C>A (p.Pro1783=)
c.5505C>A (p.Pro1835=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51806958C=CA2036194122SCN8Ac.5472C= (p.Pro1824=)
c.3536C=
c.5349C= (p.Pro1783=)
c.5505C= (p.Pro1835=)
12g.51806958C>GCA6571920SCN8Ac.5472C>G (p.Pro1824=)
c.3536C>G
c.5349C>G (p.Pro1783=)
c.5505C>G (p.Pro1835=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51806958C>TCA236327655SCN8Ac.5472C>T (p.Pro1824=)
c.3536C>T
c.5349C>T (p.Pro1783=)
c.5505C>T (p.Pro1835=)
dbSNP
12g.51806958_51806959insTTTGCAGATGCCTTGGAGCATCCTCTCCGAGTGCCCAAGCCACA947652706SCN8Ac.5472_5473insTTTGCAGATGCCTTGGAGCATCCTCTCCGAGTGCCCAAGCCA (p.Pro1824_Asn1825insPheAlaAspAlaLeuGluHisProLeuArgValProLysPro)
c.3536_3537insTTTGCAGATGCCTTGGAGCATCCTCTCCGAGTGCCCAAGCCA
c.5349_5350insTTTGCAGATGCCTTGGAGCATCCTCTCCGAGTGCCCAAGCCA (p.Pro1783_Asn1784insPheAlaAspAlaLeuGluHisProLeuArgValProLysPro)
c.5505_5506insTTTGCAGATGCCTTGGAGCATCCTCTCCGAGTGCCCAAGCCA (p.Pro1835_Asn1836insPheAlaAspAlaLeuGluHisProLeuArgValProLysPro)
gnomAD v3 gnomAD v4
12g.51806959A>CCA384886591SCN8Ac.5473A>C (p.Asn1825His)
c.3537A>C
c.5350A>C (p.Asn1784His)
c.5506A>C (p.Asn1836His)
12g.51806959A>GCA384886593SCN8Ac.5473A>G (p.Asn1825Asp)
c.3537A>G
c.5350A>G (p.Asn1784Asp)
c.5506A>G (p.Asn1836Asp)
12g.51806959A>TCA384886604SCN8Ac.5473A>T (p.Asn1825Tyr)
c.3537A>T
c.5350A>T (p.Asn1784Tyr)
c.5506A>T (p.Asn1836Tyr)
12g.51806960A=CA2036194144SCN8Ac.5474A= (p.Asn1825=)
c.3538A=
c.5351A= (p.Asn1784=)
c.5507A= (p.Asn1836=)
12g.51806960A>CCA384886610SCN8Ac.5474A>C (p.Asn1825Thr)
c.3538A>C
c.5351A>C (p.Asn1784Thr)
c.5507A>C (p.Asn1836Thr)
12g.51806960A>GCA384886613SCN8Ac.5474A>G (p.Asn1825Ser)
c.3538A>G
c.5351A>G (p.Asn1784Ser)
c.5507A>G (p.Asn1836Ser)
dbSNP gnomAD v4
12g.51806960A>TCA384886612SCN8Ac.5474A>T (p.Asn1825Ile)
c.3538A>T
c.5351A>T (p.Asn1784Ile)
c.5507A>T (p.Asn1836Ile)
12g.51806961T>ACA384886617SCN8Ac.5475T>A (p.Asn1825Lys)
c.3539T>A
c.5352T>A (p.Asn1784Lys)
c.5508T>A (p.Asn1836Lys)
dbSNP
12g.51806961T>CCA6571921SCN8Ac.5475T>C (p.Asn1825=)
c.3539T>C
c.5352T>C (p.Asn1784=)
c.5508T>C (p.Asn1836=)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.51806961T>GCA384886618SCN8Ac.5475T>G (p.Asn1825Lys)
c.3539T>G
c.5352T>G (p.Asn1784Lys)
c.5508T>G (p.Asn1836Lys)
12g.51806961T=CA2036194153SCN8Ac.5475T= (p.Asn1825=)
c.3539T=
c.5352T= (p.Asn1784=)
c.5508T= (p.Asn1836=)
12g.51806962A>CCA384886623SCN8Ac.5476A>C (p.Thr1826Pro)
c.3540A>C
c.5353A>C (p.Thr1785Pro)
c.5509A>C (p.Thr1837Pro)
12g.51806962A>GCA384886628SCN8Ac.5476A>G (p.Thr1826Ala)
c.3540A>G
c.5353A>G (p.Thr1785Ala)
c.5509A>G (p.Thr1837Ala)
gnomAD v4
12g.51806962A>TCA384886635SCN8Ac.5476A>T (p.Thr1826Ser)
c.3540A>T
c.5353A>T (p.Thr1785Ser)
c.5509A>T (p.Thr1837Ser)
12g.51806963C>ACA384886636SCN8Ac.5477C>A (p.Thr1826Asn)
c.3541C>A
c.5354C>A (p.Thr1785Asn)
c.5510C>A (p.Thr1837Asn)
12g.51806963C>GCA384886637SCN8Ac.5477C>G (p.Thr1826Ser)
c.3541C>G
c.5354C>G (p.Thr1785Ser)
c.5510C>G (p.Thr1837Ser)
gnomAD v4
12g.51806963C>TCA384886638SCN8Ac.5477C>T (p.Thr1826Ile)
c.3541C>T
c.5354C>T (p.Thr1785Ile)
c.5510C>T (p.Thr1837Ile)
12g.51806964C>ACA480061857SCN8Ac.5478C>A (p.Thr1826=)
c.3542C>A
c.5355C>A (p.Thr1785=)
c.5511C>A (p.Thr1837=)
12g.51806964C>GCA480061858SCN8Ac.5478C>G (p.Thr1826=)
c.3542C>G
c.5355C>G (p.Thr1785=)
c.5511C>G (p.Thr1837=)
12g.51806964C>TCA480061859SCN8Ac.5478C>T (p.Thr1826=)
c.3542C>T
c.5355C>T (p.Thr1785=)
c.5511C>T (p.Thr1837=)
gnomAD v4
12g.51806965A=CA2036194160SCN8Ac.5479A= (p.Ile1827=)
c.3543A=
c.5356A= (p.Ile1786=)
c.5512A= (p.Ile1838=)
12g.51806965A>CCA384886640SCN8Ac.5479A>C (p.Ile1827Leu)
c.3543A>C
c.5356A>C (p.Ile1786Leu)
c.5512A>C (p.Ile1838Leu)
12g.51806965A>GCA6571922SCN8Ac.5479A>G (p.Ile1827Val)
c.3543A>G
c.5356A>G (p.Ile1786Val)
c.5512A>G (p.Ile1838Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51806965A>TCA384886643SCN8Ac.5479A>T (p.Ile1827Phe)
c.3543A>T
c.5356A>T (p.Ile1786Phe)
c.5512A>T (p.Ile1838Phe)
12g.51806966T>ACA384886650SCN8Ac.5480T>A (p.Ile1827Asn)
c.3544T>A
c.5357T>A (p.Ile1786Asn)
c.5513T>A (p.Ile1838Asn)
12g.51806966T>CCA384886661SCN8Ac.5480T>C (p.Ile1827Thr)
c.3544T>C
c.5357T>C (p.Ile1786Thr)
c.5513T>C (p.Ile1838Thr)
ClinVar dbSNP gnomAD v4
12g.51806966T>GCA384886658SCN8Ac.5480T>G (p.Ile1827Ser)
c.3544T>G
c.5357T>G (p.Ile1786Ser)
c.5513T>G (p.Ile1838Ser)
12g.51806966T=CA2036194171SCN8Ac.5480T= (p.Ile1827=)
c.3544T=
c.5357T= (p.Ile1786=)
c.5513T= (p.Ile1838=)
12g.51806967T>ACA480061862SCN8Ac.5481T>A (p.Ile1827=)
c.3545T>A
c.5358T>A (p.Ile1786=)
c.5514T>A (p.Ile1838=)
12g.51806967T>CCA480061864SCN8Ac.5481T>C (p.Ile1827=)
c.3545T>C
c.5358T>C (p.Ile1786=)
c.5514T>C (p.Ile1838=)
12g.51806967T>GCA384886662SCN8Ac.5481T>G (p.Ile1827Met)
c.3545T>G
c.5358T>G (p.Ile1786Met)
c.5514T>G (p.Ile1838Met)
12g.51806968G>ACA384886665SCN8Ac.5482G>A (p.Glu1828Lys)
c.3546G>A
c.5359G>A (p.Glu1787Lys)
c.5515G>A (p.Glu1839Lys)
12g.51806968G>CCA384886669SCN8Ac.5482G>C (p.Glu1828Gln)
c.3546G>C
c.5359G>C (p.Glu1787Gln)
c.5515G>C (p.Glu1839Gln)
gnomAD v4
12g.51806968G=CA2036194181SCN8Ac.5482G= (p.Glu1828=)
c.3546G=
c.5359G= (p.Glu1787=)
c.5515G= (p.Glu1839=)
12g.51806968G>TCA384886672SCN8Ac.5482G>T (p.Glu1828Ter)
c.3546G>T
c.5359G>T (p.Glu1787Ter)
c.5515G>T (p.Glu1839Ter)
dbSNP
12g.51806969A>CCA384886690SCN8Ac.5483A>C (p.Glu1828Ala)
c.3547A>C
c.5360A>C (p.Glu1787Ala)
c.5516A>C (p.Glu1839Ala)
12g.51806969A>GCA384886691SCN8Ac.5483A>G (p.Glu1828Gly)
c.3547A>G
c.5360A>G (p.Glu1787Gly)
c.5516A>G (p.Glu1839Gly)
12g.51806969A>TCA384886696SCN8Ac.5483A>T (p.Glu1828Val)
c.3547A>T
c.5360A>T (p.Glu1787Val)
c.5516A>T (p.Glu1839Val)
12g.51806970G>ACA480061866SCN8Ac.5484G>A (p.Glu1828=)
c.3548G>A
c.5361G>A (p.Glu1787=)
c.5517G>A (p.Glu1839=)
gnomAD v4
12g.51806970G>CCA384886702SCN8Ac.5484G>C (p.Glu1828Asp)
c.3548G>C
c.5361G>C (p.Glu1787Asp)
c.5517G>C (p.Glu1839Asp)
12g.51806970G>TCA384886714SCN8Ac.5484G>T (p.Glu1828Asp)
c.3548G>T
c.5361G>T (p.Glu1787Asp)
c.5517G>T (p.Glu1839Asp)
gnomAD v4
12g.51806971C>ACA384886726SCN8Ac.5485C>A (p.Leu1829Ile)
c.3549C>A
c.5362C>A (p.Leu1788Ile)
c.5518C>A (p.Leu1840Ile)
12g.51806971C=CA2036194183SCN8Ac.5485C= (p.Leu1829=)
c.3549C=
c.5362C= (p.Leu1788=)
c.5518C= (p.Leu1840=)
12g.51806971C>GCA384886745SCN8Ac.5485C>G (p.Leu1829Val)
c.3549C>G
c.5362C>G (p.Leu1788Val)
c.5518C>G (p.Leu1840Val)
12g.51806971C>TCA6571923SCN8Ac.5485C>T (p.Leu1829Phe)
c.3549C>T
c.5362C>T (p.Leu1788Phe)
c.5518C>T (p.Leu1840Phe)
dbSNP ExAC

Number of alleles fetched